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This study will assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13. The results obtained from Vanadis NIPT will be compared with the study site's current prenatal screening methods. The primary objectives are: 1) To assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13 in the maternal healthcare setting, 2) To assess preliminary performance of Vanadis NIPT for screening of T21 in comparison to site's routine screening methods i.e. combined and integrated tests, and 3) To evaluate preliminary cost effectiveness of Vanadis NIPT use in different models. The secondary objective is to assess the feasibility of Vanadis NIPT regarding determination of fetal sex.
Vanadis NIPT system
Centro Screening neonatale e prenatale del Piemonte e Valle d'Aosta AOU Città della Salute e della Scienza di Torino
Enrolling by invitation
PerkinElmer, Wallac Oy
Published on BioPortfolio: 2018-06-21T02:46:21-0400
Noninvasive prenatal genetic testing (NIPT) is an important new screening test option provided to pregnant women in the first trimester of pregnancy. The advantage of this screen is that i...
This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study c...
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chr...
The objective of this project is to develop a non-invasive prenatal diagnostic test for trisomy 21 which is reliable, sensitive and cost-effective, and thus, offers an alternative to the c...
The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially...
Molecular size determination of circulating free fetal DNA in maternal plasma is an important detection method for noninvasive prenatal testing (NIPT). The fetal DNA molecule is the primary factor det...
Non-invasive prenatal testing (NIPT) is routinely used in clinical practice for fetal trisomy screening, but low total cfDNA content and low fetal fraction (LFF) are two factors that affect the detect...
Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosome disorders. Recent studies show an incidental detection of maternal malignancies in NIPT diagnostics, where the simultaneous...
Non-invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and very early in gestation. There are concerns that the ease, timing and accuracy of NIPT sex determination wil...
A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.
A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XY karyotype (GONADAL DYSGENESIS, 46,XY).
A 4-kDa protein, 39-43 amino acids long, expressed by a gene located on chromosome 21. It is the major protein subunit of the vascular and plaque amyloid filaments in individuals with Alzheimer's disease and in aged individuals with trisomy 21 (DOWN SYNDROME). The protein is found predominantly in the nervous system, but there have been reports of its presence in non-neural tissue.
The possession of a third chromosome of any one type in an otherwise diploid cell.
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